Investigation of clinical and molecular genetic characteristics of inherited macular diseases for treatment approach

2014 Fiscal Year Final Research Report

• Project/Area Number: 25861662
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Ophthalmology
• Research Institution: 独立行政法人国立病院機構(東京医療センター臨床研究センター)
• Principal Investigator: FUJINAMI Kaoru 独立行政法人国立病院機構(東京医療センター臨床研究センター), 視覚生理学研究室, 研究員 (60646206)
• Research Collaborator: TSUNODA Kazushige ; IWATA Takeshi ; AKAHORI Masakazu ; MIYAKE Yozo ; KONDO Mineo ; ANDREW Webster ; MOORE Anthony
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 遺伝性網膜疾患 / 黄斑部遺伝性疾患

Outline of Final Research Achievements

We studied the clinical and molecular genetic characteristics of inherited macular diseases for treatment approaches. The cohort established till March of 2015 included 167 subjects from 143 families; occult macular dystrophy (64 families), cone (-rod) dystrophy (42), Stargardt disease (34), and Best disease (3). Genetic diagnosis was obtained in 29 families; 17 families with RP1L1, 3 with ABCA4, 2 with BEST1, 2 with GUCA1A, 2 with GUCY2D, 1 with ADAMTS18, 1 with PDE6C, and 1 with RPGR. In the two subsets with RP1L1-related retinal disease and ABCA4-related retinal disease, the genotype-phenotype association was studied. There was no significant association between disease severity and types of mutations in RP1L1-related retinal disease. A significant genotype-phenotype association was revealed in ABCA4-related retinal disease in collaboration with a British team, suggesting the treatment approaches are recommended for such patients.

Free Research Field

眼遺伝学